Advertisement

Symptoms, diagnosis and causes of achondroplasia

Symptoms, diagnosis and causes of achondroplasia

Symptoms, diagnosis and causes of achondroplasia

Symptoms, diagnosis and causes of achondroplasia

Submit a request for further information, a quotation or indicative cost. Your enquiry will be forwarded to up to 3 private healthcare providers. They will respond directly with further information.

Get a quote for achondroplasia treatment >

Achondroplasia is a rare genetic disorder which affects the skeletal system of the body. The most prominent feature of achondroplasia is short stature or dwarfism with normal intellect.

Incidence, age and sex

Achondroplasia is a rare disorder with an incidence of 1 in every 15000. It is the most common cause of dwarfism. It has no gender predilection and affects males and females equally.

Signs and symptoms

The features of achondroplasia are evident, right at the time of birth. A person with achondroplasia typically has a large head with short arms and legs. The stature is short with a maximum attainable height of 4 feet. Intellect and life span are normal. Following are some other features:

  • Distinguishing facial features include prominent forehead and flattened bridge of nose.
  • Hands are small and broad with a breach between middle and ring finger.
  • Feet are small in size and flat.
  • Spine is markedly curved backwards. Sometimes back hump is also observed.
  • Physical milestones like standing, walking are delayed due to poor muscle tone.
  • Dental abnormalities like over crowding of teeth are common.
  • Other abnormalities include knock knee and bow legs.

Causes and prevention

Achondroplasia is a result of a mutated gene, FGFR3, resulting in the inhibition of bone and cartilage growth. This causes disproportionate physical growth. This gene can have spontaneous mutations, chances of which are amplified with paternal age of 40 years or more. Alternatively it can be passed on through an achondroplasic parent or a normal parent who is carrying a mutated FGFR3 gene. Achondroplasic parents should always consider genetic counselling before planning a family.

Complications

The skeletal deformities in achondroplasia may cause many complications. The abnormal spinal curvature including the abnormal size of vertebrae may compress the spinal cord causing numbness and weakness in legs. A more serious condition, sleep apnoea, in which the patient has breath holding spells during sleep can also result from spinal cord compression. A person with achondroplasia may have enlarged tonsils which can obstruct breathing and narrow ear canals which causes frequent ear infections. Such recurrent ear infections should not be ignored since they may lead to hearing loss.

Submit a request for further information, a quotation or indicative cost. Your enquiry will be forwarded to up to 3 private healthcare providers. They will respond directly with further information.

Get a quote for achondroplasia treatment >

Advertisement

Features

Latest news

The London Clinic launches osseointegration

The London Clinic and Schoen Clinic London form partnership

30,000 people are diagnosed with ankle arthritis annually

Symptoms, diagnosis and causes of achondroplasia

Find a ...

Advertisement